脊髓性肌萎缩症SMN1基因 2+0基因型携带者的家系研究
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曹延延, 程苗苗, 宋昉, 瞿宇晋, 白晋丽, 金煜炜, 王红
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Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype
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Yanyan Cao, Miaomiao Cheng, Fang Song, Yujin Qu, Jinli Bai, Hong Wang
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表2 SMN1基因拷贝数在家系中的分布
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Table 2 The distribution of SMN1copies in SMA families
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| 家系 | I (祖父/祖母或
外祖父/外祖母) | II
(父亲/母亲) | III
(先证者/同胞) | | #1 | 1/3 | 2/1 | 0 | | #2 | 3/1 | 1/2 | 0 | | #3 | 1/3 | 1/2 | 0 | | #4 | 3/1 | 2/1 | 0 | | #5 | 1/3 | 1/2 | 0 | | #6 | 1/3 | 1/2 | 0 | | #7 | 1/3 | 2/1 | 0 | | #8 | 3/NA | 1/2 | 0/2 | | #9 | NA | 1/2 | 0/3 | | 合计 | 8 | 9 | 9 |
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